Canonical Allele Identifier: CA376729217

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708732T>G (hg19) ; chr10:g.49500686T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500686T>G , CM000672.2:g.49500686T>G	GRCh38
NC_000010.10:g.50708732T>G , CM000672.1:g.50708732T>G	GRCh37
NC_000010.9:g.50378738T>G	NCBI36
NG_009442.1:g.43416A>C , LRG_465:g.43416A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1537A>C MANE Select	ENSP00000348089.5:p.Thr513Pro
ENST00000681632.1:n.1615A>C
ENST00000681659.1:c.1526+5198A>C	ENSP00000505631.1:n.1526+5198A>C
ENST00000355832.9:c.1537A>C	ENSP00000348089.5:p.Thr513Pro
ENST00000475116.1:n.127A>C
ENST00000623073.3:c.-63A>C	ENSP00000485650.1:n.-63A>C
ENST00000623115.3:c.-218A>C	ENSP00000485321.1:n.-218A>C
ENST00000623318.1:c.-63A>C	ENSP00000485423.1:n.-63A>C
ENST00000623788.1:n.536A>C
NM_000124.3:c.1537A>C	NP_000115.1:p.Thr513Pro
NM_001346440.1:c.1537A>C	NP_001333369.1:p.Thr513Pro
NM_000124.4:c.1537A>C MANE Select	NP_000115.1:p.Thr513Pro
NM_001346440.2:c.1537A>C	NP_001333369.1:p.Thr513Pro